Obesity
|
0.370 |
Biomarker
|
disease |
BEFREE |
Elucidating the function of the mutated gene, ALMS1, is critical for the development of specific treatments and may uncover pathways relevant to a range of other disorders including common forms of obesity and type 2 diabetes.
|
30421101 |
2019 |
Obesity
|
0.370 |
CausalMutation
|
disease |
CLINVAR |
A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.
|
29079548 |
2018 |
Obesity
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
This study therefore investigated OCA effects in Wt mice, which develop obesity with atherogenic dietary feeding, and appetite-dysregulated, Alms1 mutant foz/foz mice fed the same diet, which develop metabolic obesity and diabetes.
|
27804232 |
2017 |
Obesity
|
0.370 |
AlteredExpression
|
disease |
BEFREE |
Despite equivalent levels of obesity, patients with Alström syndrome are more likely than those with Bardet-Biedl syndrome to develop childhood type 2 diabetes mellitus (T2DM), suggesting that ALMS1 might have a specific role in β-cell function and/or peripheral insulin signaling pathways.
|
21135875 |
2011 |
Obesity
|
0.370 |
Biomarker
|
disease |
BEFREE |
ALMS1 is a multisystem condition characterized by childhood onset of blindness, dilated cardiomyopathy, sensorineural hearing loss, renal failure, fibrotic lung disease, and metabolic abnormalities, including hypertriglyceridemia, liver steatosis, insulin resistance, type 2 diabetes mellitus, and obesity.
|
19440062 |
2009 |
Obesity
|
0.370 |
Biomarker
|
disease |
BEFREE |
Alms1-/- mice develop features similar to patients with AS, including obesity, hypogonadism, hyperinsulinemia, retinal dysfunction and late-onset hearing loss.
|
16000322 |
2005 |
Obesity
|
0.370 |
Biomarker
|
disease |
BEFREE |
Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes.
|
15855349 |
2005 |
Obesity
|
0.370 |
Biomarker
|
disease |
MGD |
Alms1-/- mice develop features similar to patients with AS, including obesity, hypogonadism, hyperinsulinemia, retinal dysfunction and late-onset hearing loss.
|
16000322 |
2005 |
Obesity
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.
|
11941369 |
2002 |